Conditions / Musculoskeletal
Charcot-Marie-Tooth disease recessive intermediate A
info · Musculoskeletal
A Charcot-Marie-Tooth disease intermediate type that has_material_basis_in homozygous mutation in the GDAP1 gene on chromosome 8q21.
Signs and symptoms
- Distal sensory impairment
- Hyporeflexia
- Decreased number of large peripheral myelinated nerve fibers
- Onion bulb formation
- Areflexia
- Peripheral demyelination
- Peripheral neuropathy
- Lower limb muscle weakness
- Upper limb muscle weakness
- Steppage gait
Also known as: CMTRIA; Charcot-Marie-Tooth neuropathy recessive intermediate A; RI-CMTA; autosomal recessive intermediate Charcot-Marie-Tooth disease type A